Mutagenetix > Incidental Mutation

Incidental Mutation 'R4761:Prcp'

356883

Institutional Source

Beutler Lab

Gene Symbol

Prcp

Ensembl Gene

ENSMUSG00000061119

Gene Name

prolylcarboxypeptidase (angiotensinase C)

Synonyms

2510048K03Rik, 2610104A14Rik

MMRRC Submission

042402-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R4761 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92524461-92583789 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 92566933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076052] [ENSMUST00000207594]

AlphaFold

Q7TMR0

Predicted Effect

probably benign
Transcript: ENSMUST00000076052
AA Change: E215G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075429
Gene: ENSMUSG00000061119
AA Change: E215G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Peptidase_S37	20	211	1.4e-4	PFAM
Pfam:Peptidase_S28	53	475	3.4e-92	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000207594

Meta Mutation Damage Score

0.0717

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S28 family of serine exopeptidases. The encoded preproprotein is proteolytically processed to generate the mature lysosomal prolylcarboxypeptidase. This enzyme cleaves C-terminal amino acids linked to proline in peptides such as angiotension II, III and des-Arg9-bradykinin. The cleavage occurs at acidic pH, but the enzyme activity is retained with some substrates at neutral pH. This enzyme has been shown to be an activator of the cell matrix-associated prekallikrein. The importance of angiotension II, one of the substrates of this enzyme, in regulating blood pressure and electrolyte balance suggests that this gene may be related to essential hypertension. A pseudogene of this gene has been identified on chromosome 2. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased body length, weight, and fat pads with resistance to diet-induced obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	G	9: 101,820,165 (GRCm39)	D195G	possibly damaging	Het
Abcc8	G	A	7: 45,762,499 (GRCm39)	R1221C	probably damaging	Het
Adra1a	T	A	14: 66,964,880 (GRCm39)		probably null	Het
Akr1c6	A	T	13: 4,497,010 (GRCm39)	M98L	probably benign	Het
Alpk3	A	G	7: 80,753,916 (GRCm39)	Q1632R	probably damaging	Het
Arhgap24	G	T	5: 102,812,080 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,308,504 (GRCm39)	*40W	probably null	Het
Bdkrb2	A	T	12: 105,554,537 (GRCm39)	M17L	probably benign	Het
C4bp	T	C	1: 130,581,158 (GRCm39)	K117R	possibly damaging	Het
Cacng3	A	T	7: 122,367,887 (GRCm39)	T256S	probably benign	Het
Cep63	T	C	9: 102,464,240 (GRCm39)		probably benign	Het
Ces2b	T	A	8: 105,563,193 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,564,592 (GRCm39)	D1696V	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcst1	A	T	3: 89,264,860 (GRCm39)	M296K	possibly damaging	Het
Ehbp1l1	G	A	19: 5,769,875 (GRCm39)	P476L	possibly damaging	Het
Enpp1	A	G	10: 24,517,849 (GRCm39)	V858A	possibly damaging	Het
Ermp1	T	A	19: 29,623,656 (GRCm39)	E55D	probably benign	Het
Eya1	G	A	1: 14,373,045 (GRCm39)	L25F	probably damaging	Het
Foxn2	T	A	17: 88,770,136 (GRCm39)		probably null	Het
Gabrb3	A	T	7: 57,415,250 (GRCm39)	T107S	probably damaging	Het
Gm26678	A	T	3: 54,540,564 (GRCm39)		noncoding transcript	Het
Gm7897	G	T	1: 173,657,536 (GRCm39)		noncoding transcript	Het
Gm9789	A	T	16: 88,954,915 (GRCm39)	Y8F	unknown	Het
Gsta3	A	T	1: 21,330,381 (GRCm39)	T78S	probably benign	Het
H2-Ab1	A	G	17: 34,486,474 (GRCm39)	N178D	probably damaging	Het
Herc6	G	A	6: 57,639,885 (GRCm39)	V1000I	probably benign	Het
Hrnr	A	C	3: 93,230,062 (GRCm39)	K100T	probably damaging	Het
Ift57	T	C	16: 49,522,263 (GRCm39)	F2L	probably damaging	Het
Iqca1l	A	G	5: 24,756,981 (GRCm39)	V232A	probably benign	Het
Kmt2a	C	A	9: 44,760,421 (GRCm39)	R509L	probably damaging	Het
Lefty1	T	A	1: 180,765,190 (GRCm39)	C253S	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,091,435 (GRCm39)		probably null	Het
Mfsd9	T	C	1: 40,813,635 (GRCm39)	K227E	possibly damaging	Het
Mrps2	C	G	2: 28,359,946 (GRCm39)	H268D	probably benign	Het
Mrps27	T	A	13: 99,548,739 (GRCm39)	S292T	probably benign	Het
Ncaph	T	C	2: 126,948,036 (GRCm39)	D683G	probably benign	Het
Nlrc3	A	T	16: 3,781,514 (GRCm39)	S632T	probably damaging	Het
Nsun6	T	C	2: 15,034,872 (GRCm39)	T198A	possibly damaging	Het
Oasl2	C	T	5: 115,037,836 (GRCm39)	H78Y	probably benign	Het
Or8b54	T	C	9: 38,687,133 (GRCm39)	V194A	probably benign	Het
Pcsk5	T	C	19: 17,814,512 (GRCm39)	D2G	possibly damaging	Het
Pdgfrb	C	A	18: 61,212,772 (GRCm39)	S892Y	probably damaging	Het
Phf8-ps	A	T	17: 33,286,172 (GRCm39)	V210D	probably damaging	Het
Por	T	G	5: 135,754,784 (GRCm39)		probably benign	Het
Ppp2r5e	A	T	12: 75,640,035 (GRCm39)	V22D	possibly damaging	Het
Ptchd3	A	T	11: 121,727,224 (GRCm39)	N366I	possibly damaging	Het
Rprd1b	A	G	2: 157,889,890 (GRCm39)	E4G	probably damaging	Het
Semp2l1	A	T	1: 32,585,588 (GRCm39)	S107R	possibly damaging	Het
Serpinb6d	C	A	13: 33,855,250 (GRCm39)	S308Y	probably damaging	Het
Slc12a7	T	C	13: 73,961,708 (GRCm39)	V1026A	probably benign	Het
Slc17a7	G	A	7: 44,820,408 (GRCm39)	V313I	probably benign	Het
Slc35c1	T	A	2: 92,289,168 (GRCm39)	M113L	probably damaging	Het
Smgc	A	G	15: 91,729,717 (GRCm39)	T178A	possibly damaging	Het
Spef2	A	T	15: 9,653,040 (GRCm39)	W914R	probably damaging	Het
Srfbp1	C	A	18: 52,621,638 (GRCm39)	P233Q	probably damaging	Het
Swt1	A	C	1: 151,276,853 (GRCm39)	C508G	probably benign	Het
Tex22	T	C	12: 113,052,386 (GRCm39)	V148A	possibly damaging	Het
Tle7	A	T	8: 110,836,753 (GRCm39)	D213V	probably damaging	Het
Tpd52	G	A	3: 9,028,933 (GRCm39)	P37L	probably damaging	Het
Utp25	T	C	1: 192,796,230 (GRCm39)	Y145C	probably damaging	Het
Vmn1r197	A	T	13: 22,512,174 (GRCm39)	M32L	probably benign	Het
Vmn2r100	T	C	17: 19,741,630 (GRCm39)	F114S	possibly damaging	Het
Xdh	T	A	17: 74,217,262 (GRCm39)	I669F	possibly damaging	Het
Zfp940	G	A	7: 29,545,578 (GRCm39)	R110C	probably benign	Het

Other mutations in Prcp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Prcp	APN	7	92,582,307 (GRCm39)	missense	probably benign	0.00
IGL01124:Prcp	APN	7	92,559,416 (GRCm39)	missense	probably benign	0.01
IGL01538:Prcp	APN	7	92,559,421 (GRCm39)	missense	probably benign	0.09
IGL02005:Prcp	APN	7	92,577,032 (GRCm39)	missense	probably benign	0.01
IGL02160:Prcp	APN	7	92,566,969 (GRCm39)	missense	probably benign	0.02
IGL02548:Prcp	APN	7	92,550,382 (GRCm39)	missense	probably damaging	0.98
R0140:Prcp	UTSW	7	92,577,819 (GRCm39)	missense	probably damaging	1.00
R0480:Prcp	UTSW	7	92,568,290 (GRCm39)	missense	probably damaging	1.00
R0989:Prcp	UTSW	7	92,559,424 (GRCm39)	missense	probably benign	0.04
R1216:Prcp	UTSW	7	92,566,954 (GRCm39)	missense	probably benign
R1596:Prcp	UTSW	7	92,567,042 (GRCm39)	intron	probably benign
R1823:Prcp	UTSW	7	92,577,883 (GRCm39)	missense	probably damaging	0.98
R2132:Prcp	UTSW	7	92,550,488 (GRCm39)	missense	probably benign	0.01
R2206:Prcp	UTSW	7	92,577,820 (GRCm39)	missense	probably damaging	1.00
R5000:Prcp	UTSW	7	92,568,368 (GRCm39)	missense	probably damaging	0.99
R5320:Prcp	UTSW	7	92,577,843 (GRCm39)	missense	probably benign	0.01
R5969:Prcp	UTSW	7	92,566,974 (GRCm39)	missense	probably benign	0.01
R6013:Prcp	UTSW	7	92,576,976 (GRCm39)	missense	possibly damaging	0.72
R6298:Prcp	UTSW	7	92,577,841 (GRCm39)	missense	probably damaging	1.00
R7733:Prcp	UTSW	7	92,550,506 (GRCm39)	missense	probably damaging	1.00
R7852:Prcp	UTSW	7	92,577,900 (GRCm39)	missense	probably benign	0.33
R8032:Prcp	UTSW	7	92,577,906 (GRCm39)	missense	probably damaging	1.00
R8317:Prcp	UTSW	7	92,524,598 (GRCm39)	missense	probably benign	0.05
R8869:Prcp	UTSW	7	92,559,518 (GRCm39)	missense	possibly damaging	0.75
R9038:Prcp	UTSW	7	92,567,017 (GRCm39)	missense	probably benign
R9185:Prcp	UTSW	7	92,582,257 (GRCm39)	missense	probably benign
R9333:Prcp	UTSW	7	92,577,894 (GRCm39)	missense	probably damaging	0.98
R9643:Prcp	UTSW	7	92,524,598 (GRCm39)	missense	probably benign	0.00
R9725:Prcp	UTSW	7	92,567,035 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGACTAGTGCCCTTTCCT -3'
(R):5'- AACCCTAAAATGTCAACCTCTGA -3'

Sequencing Primer
(F):5'- TGCAGGCAGAACACTGTGTAC -3'
(R):5'- ACAAAAGTTACAAAAAGTGTCAGC -3'

Posted On

2015-11-11